GRAND RAPIDS, Mich., Sept. 21, 2018 - Researchers from Michigan State University College of Human Medicine and physicians from Spectrum Health have identified for the first time in a human patient a genetic disorder only previously described in animal models.
The disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1) and is defined by a number of clinical features including large birth weight, enlarged head size, hair loss, reduced muscle strength, skin lesions, hearing loss and developmental delays.
The disorder is, as of yet, unnamed, and its long-term effects, which include impacts on the neurological system, are not completely known.
"This remarkable case represents the first human example of a disorder that was described by researchers in a transgenic mouse model more than 20 years ago," said senior author André Bachmann, PhD, Michigan State University professor and associate chair for pediatric research.
"The ODC1 gene plays an important role in a number of physiological and cell developmental processes including embryo and organ development," said lead author Caleb Bupp, MD, Spectrum Health medical geneticist.
Researchers also theorize that the ODC inhibitor DFMO, a water soluble, FDA-approved drug, may serve as a disease-modifying drug, and an early therapeutic trial in a new diagnosis may prevent some of the clinical symptoms.